Jonathan Berg

Deciphering Developmental Disorders (DDD) Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

Research output: Contribution to journal › Article

Open Access

File

Intellectual Disability

Amish

Eyebrows

Phenotype

Craniosynostoses

1 Citation (Scopus)

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

Research output: Contribution to journal › Article

Language Development Disorders

Phenotype

Inheritance Patterns

Microcephaly

Pain Threshold

70 Downloads (Pure)

Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes

Deciphering Developmental Disorders (DDD) Study, Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I., Dean, J., Shannon, N., Berg, J., Holder, S., Baralle, D. & Clayton-Smith, J., 3 Sep 2019, In : Archives of Disease in Childhood. 6 p.

Research output: Contribution to journal › Article

Open Access

File

Exome

Anticonvulsants

Phenotype

Genetic Services

Developmental Genes

2 Citations (Scopus)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Deciphering Developmental Disorders (DDD) Study, Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U. & 33 others, Joss, S., von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journal › Article

Open Access

Gene Components

Histone Acetyltransferases

Autistic Disorder

Intellectual Disability

Genetic Association Studies

P6505 Urinary desmosine, an elastin-specific degradation product is associated with maximum aortic root size and aortic z-scores in patients with bicuspid aortic valve

Iskandar, Z., Huang, J. T. J., Mordi, I., Miller, L. D., Chin, C., Goudie, D., Mcwilliam, C., Berg, J., Neagoie, A., Lang, C. C. & Choy, A. M., 21 Oct 2019, p. ehz746.1095.

Research output: Contribution to conference › Abstract

Desmosine

Elastin

Aortic Valve

Marfan Syndrome

Bicuspid Aortic Valve